ADH1B

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Alcohol dehydrogenase 1B (class I), beta polypeptide
Protein ADH1B PDB 1deh.png
PDB rendering based on 1deh.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ADH1B ; ADH2; HEL-S-117
External IDs OMIM103720 HomoloGene133563 ChEMBL: 3284 GeneCards: ADH1B Gene
EC number 1.1.1.1
Orthologs
Species Human Mouse
Entrez 125 n/a
Ensembl ENSG00000196616 n/a
UniProt P00325 n/a
RefSeq (mRNA) NM_000668 n/a
RefSeq (protein) NP_000659 n/a
Location (UCSC) Chr 4:
100.23 – 100.24 Mb
n/a
PubMed search [1] n/a

Alcohol dehydrogenase 1B is an enzyme that in humans is encoded by the ADH1B gene.[1]

The protein encoded by this gene is a member of the alcohol dehydrogenase family. Members of this enzyme family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. This encoded protein, consisting of several homo- and heterodimers of alpha, beta, and gamma subunits, exhibits high activity for ethanol oxidation and plays a major role in ethanol catabolism. Three genes encoding alpha, beta and gamma subunits are tandemly organized in a genomic segment as a gene cluster.[2]

The human gene is located on chromosome 4 in 4q22.

Previously ADH1B was called ADH2. There are more genes in the family of alcohol and aldehyde dehydrogenase genes. These genes are now referred to as ADH1A, ADH1C, and ADH4, ADH5, ADH6 and ADH7.[3]

Variants[edit]

A single nucleotide polymorphism (SNP) in ADH1B is rs1229984, that changes arginine to histidine at residue 47.[4] The 'typical' variant of this has been referred to as ADH2(1) or ADH2*1 while the 'atypical' has been referred to as, e.g., ADH2(2), ADH2*2, ADH1B*47his, or ADH1B arg47-to-his. This SNP may be related to alcohol consumption with the atypical genotype having reduced risk of alcoholism.[5]

Another SNP is Arg369Cys.[6]

Role in pathology[edit]

A marked decrease of ADH1B mRNA was detected in corneal fibroblasts taken from persons suffering from keratoconus.[7]

See also[edit]

References[edit]

  1. ^ Smith M (Mar 1986). "Genetics of human alcohol and aldehyde dehydrogenases". Adv Hum Genet 15: 249–90. doi:10.1007/978-1-4615-8356-1_5. PMID 3006456. 
  2. ^ "Entrez Gene: ADH1B alcohol dehydrogenase IB (class I), beta polypeptide". 
  3. ^ Sandra Porter (2008-08-21). "A gene by many other names and thoughts on teaching bioinformatics". ScienceBlogs. Retrieved 2008-09-03. 
  4. ^ Y. Matsuo, R. Yokoyama & S. Yokoyama (August 1989). "The genes for human alcohol dehydrogenases beta 1 and beta 2 differ by only one nucleotide". European Journal of Biochemistry 183 (2): 317–310. doi:10.1111/j.1432-1033.1989.tb14931.x. PMID 2547609. 
  5. ^ T. Muramatsu, Z. C. Wang, Y. R. Fang, K. B. Hu, H. Yan, K. Yamada, S. Higuchi, S. Harada & H. Kono (August 1995). "Alcohol and aldehyde dehydrogenase genotypes and drinking behavior of Chinese living in Shanghai". Human Genetics 96 (2): 151–154. doi:10.1007/BF00207371. PMID 7635462. 
  6. ^ J. C. Burnell, L. G. Carr, F. E. Dwulet, H. J. Edenberg, T. K. Li & W. F. Bosron (August 1987). "The human beta 3 alcohol dehydrogenase subunit differs from beta 1 by a Cys for Arg-369 substitution which decreases NAD(H) binding". Biochemical and Biophysical Research Communications 146 (3): 1127–1123. PMID 3619918. 
  7. ^ Mootha VV, Kanoff JM, Shankardas J, Dimitrijevich S (2009). "Marked reduction of alcohol dehydrogenase in keratoconus corneal fibroblasts". Mol. Vis. 15: 706–12. PMC 2666775. PMID 19365573. 

Further reading[edit]